Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAT1_chr4_186582794_186728856	186626274	G G	GTGAGCTT others(203): Show GTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAA CATGGCACCTGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATGA ATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTCA TCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCT CGCACATAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp2 HG02647.hp1 HG03471.hp2	a0005 a0082 a0005 a0082	a0005c0151 a0082c0106 a0005c0151 a0082c0106	a0005c0151t0006 a0082c0106t0026 a0005c0151t0006 a0082c0106t0026	a0005c0151t0006g0027 a0082c0106t0026g0005 a0005c0151t0006g0027 a0082c0106t0026g0005	2	338	0.0059	210	c.481 others(229): Show c.4810+1670_4810+1879dupGTTTATGTGCGAGGTGCCATGTTGGT CCCTCATTCATTCATTCATTCATTCTGTAGGCTGATGAAGCTCGCTTTAT GTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCTGTAG GCTGATGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTCA TTCATTCATTCATTCTGTAGGCTGATGAAGCTCA	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FBN2_chr5_128252909_128543245	128449376	T T	TAGTATAC others(203): Show TAGTATACTATATAATAGTATACTGTATAATTATACAGTATACTATATAA TAGTATACTGTATAATTATACAGTATACTATATAATAGTATACTGTATAA TTATACAGTATACTATATAATAGTATACTGTATAATTATACAGTATACTA TATAATAGTATACTGTATAATTATACAGTATACTATATAATAGTATACTG TATAATTATAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0049 a0001c0009t0002g0049	1	236	0.0042	210	c.827 others(227): Show c.827-2771_827-2770insGTATAATTATACAGTATACTATTATATA GTATACTGTATAATTATACAGTATACTATTATATAGTATACTGTATAATT ATACAGTATACTATTATATAGTATACTGTATAATTATACAGTATACTATT ATATAGTATACTGTATAATTATACAGTATACTATTATATAGTATACTGTA TAATTATACAGTATACTATTATATAGTATACT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding	6/64			chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(203): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	226	0.0044	210	c.748 others(225): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGFR4_chr5_177081915_177103144	177097063	C C	CCTCCTCT others(203): Show CCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCT CCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCC TTCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG02622.hp2 HG03041.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0046 a0003c0007t0001g0046	2	372	0.0054	210	c.215 others(227): Show c.2154-227_2154-226insCCTCTTCCTCCTTCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCC TCCTGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FKBP2_chr11_64236095_64249132	64237115	G G	GGGAGAGG others(203): Show GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	210	c.-40 others(221): Show c.-4022_-4021insGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGACAGACAGAGACAGAC	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3979		chr11	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(203): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	292	0.0034	210	c.51 others(221): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998923	T T	TTATATGC others(203): Show TTATATGCATATAAATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATGCATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATAT GTATATACATATAAATATATATGTATATACATATATATATGTATATACAT ATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0209 a0004c0006t0001g0209	1	292	0.0034	210	c.51 others(221): Show c.5128_*5129insCATATATATATATGTATATACATATATATATGTA TATACATATATATTTATATGTATATACATATATATATATGTATATACATA TATATTTATATGTATATACATATATATTTATATGTATATACATATATTTA TATGCATATACATATATATTTATATGTATATAAATATATATTTATATGCA TATAAATATATATTTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4350		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999082	A A	AATATATA others(203): Show AATATATATTTATATACATATAAATATATATTTATATACATATAAAAATC TATATTTATATACATATAAAAATATATATTTATATACATATAAAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATAAATATATATATTTATATACATATAAATATATATATTTA TATACATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19063.hp1 NA19009.hp2 NA19063.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0043 a0001c0004t0001g0010 a0001c0004t0001g0043	2	292	0.0069	210	c.49 others(221): Show c.4969_*4970insATTTATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATTTTTATATGTATATAAAT ATATATTTTTATATGTATATAAATATAGATTTTTATATGTATATAAATAT ATATTTATATGTATATAAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4191		chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361614	C C	CACCACCT others(203): Show CACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCACC TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0050 a0001c0001t0008g0050	1	230	0.0044	210	c.544 others(229): Show c.544-10807_544-10806insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTG GTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGG TGGTGGTGGTGGAGGTGGTGGTGCTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCGGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18992.hp1 NA18944.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	460	0.0044	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCGG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(445): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0013 a0002c0002 a0002c0012 a0003c0007 a0004c0006 a0006c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(11): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0012t0001 a0003c0007t0001 a0004c0006t0001 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0003t0001g0001 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0002g0001 a0001c0004t0001g0001 a0001c0005t0001g0001 a0001c0010t0001g0002 a0001c0013t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0012t0001g0001 a0003c0007t0001g0001 a0004c0006t0001g0001 a0006c0011t0001g0001	448	460	0.9739	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACACGGGTCCCACCACCATCCCCGTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01074.hp2 others(3): Show HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01257.hp1 HG02523.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0009t0001g0001 a0001c0001t0001g0001 a0001c0009t0001g0001	6	460	0.0130	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACACGGGTCCCACCACCATCCCCGTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GLTPD2_chr17_4783964_4795589	4790733	G G	GTATACAG others(203): Show GTATACAGCAAGCATCCTGCACACTCCACAGACGCTGCAAATGCAACGCG TCCAACATGGGTCCCACCACCATCCCCCTAAGAACTACACCTCCTCCTGT GTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCTTCAGCTACCCAAG CGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCAGCTCCATAATGTA TGTTTATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA19240.hp1 HG01358.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	2	460	0.0044	210	c.43 others(219): Show c.437_*438insTATACAGCAAGCATCCTGCACACTCCACAGACGCTG CAAATGCAACGCGTCCAACATGGGTCCCACCACCATCCCCCTAAGAACTA CACCTCCTCCTGTGTTCCCTGTCTCTGTGAATAAATGGCACCCTCACCCT TCAGCTACCCAAGCGCATGTGCGTCATGCCTCACACCAAGCAGGTGCTCA GCTCCATAATGTATGTTTATTAAA	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		145		chr17	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATGTTCA others(203): Show TATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	234	0.0043	210	c.143 others(227): Show c.143+2186_143+2187insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR155_chr2_174426571_174492029	174454804	G G	GAAGGGAA others(203): Show GAAGGGAAGGAAGGGAAAGGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGA AGGAAGGGAAGGAAGGGAAGGGAAGGAAAAGAAAGGAAGGAAAAGGAAGG AAGGGAAAGGAAGGAAGGAAAAGGAAGGAAGGGAGAGGAAGGAAGGGAAA GGAAGGAAAGGGAAGGAAAGGGAAGGAAGGGAAGGGAAGGAAGGGAAAGG AAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0139 a0001c0004t0035g0139	1	300	0.0033	210	c.177 others(227): Show c.1772-964_1772-963insTCCCTTTCCTTCCTTTCCCTTCCTTCCC TTCCCTTCCTTCCCTTTCCTTCCCTTTCCTTCCTTTCCCTTCCTTCCTCT CCCTTCCTTCCTTTTCCTTCCTTCCTTTCCCTTCCTTCCTTTTCCTTCCT TTCTTTTCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTTC CTTCCCTTTCCTTCCTTTCCCTTCCTTCCCTT	GPR155	ENSG00000163328.14	transcript	ENST00000392552.7	protein_coding	10/15			chr2	TogoVar
GPRIN1_chr5_176590802_176615156	176591707	G G	GTGGTGAT others(203): Show GTGGTGATGATGGTGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	2	397	0.0050	210	c.51 others(221): Show c.5100_*5101insTCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCACCATCATCACCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4094		chr5	TogoVar
GRK5_chr10_119202571_119464745	119313019	A A	AGTGGTAA others(203): Show AGTGGTAATGGCAGTGGTGATGGTGGTGGTGGTAATGATGATGGTGGTGG TGATGGTGGTCGTGACGGTGATGGTAGTGGTAATGGCAGTGGTGATGGTG GTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGATGGTAATGATGGTAGTGGTGATGGTGATGATGGTAATGATGGTAG TGGTGATGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	202	0.0050	210	c.53- others(227): Show c.53-13438_53-13437insCGTGACGGTGATGGTAGTGGTAATGGCA GTGGTGATGGTGGTGGTGGTAATGATGATGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGATGGTAATGATGGTAGTGGTGATGGTGATGATGG TAATGATGGTAGTGGTGATGGTGGTGGTAATGGCAGTGGTGATGGTGGTG GTGGTAATGATGATGGTGGTGGTGATGGTGGT	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GRP_chr18_59215158_59235771	59234548	C C	CATACCAT others(203): Show CATACCATGGTATATATATTATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATATATACCATGGTATATATATTATATAACATATTATATATACCATGG TATATATATTATATAACATATTATATATACCATGGTATATATATTATATA ACATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	408	0.0025	210	c.40 others(221): Show c.4080_*4081insATACCATGGTATATATATTATATAACATATTATA TATACCATGGTATATATATTATATAACATATTATATATACCATGGTATAT ATATTATATAACATATTATATATACCATGGTATATATATTATATAACATA TTATATATACCATGGTATATATATTATATAACATATTATATATACCATGG TATATATATTATATAACATATTATAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3778		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113346073	G G	GACAAGAG others(203): Show GACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAG GACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCA GACCCAGGAGCACCTCTGTGGCTGAGCGGATCCGGGAGGACCTCTGTGGC AGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	288	0.0035	210	c.466 others(227): Show c.466-1115_466-1114insTGCCACAGAGGTCCTCCCAGGTCCGCTC TCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC GGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCTGCTCTCGGCCACAGAG ATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGGCACAGAGGTCCTCCCGGGTCTGCTCTTGT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346374	G G	GAACAGAC others(203): Show GAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCT CTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCC GGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGA GAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCT CTGTGCCTGAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	288	0.0035	210	c.466 others(227): Show c.466-1416_466-1415insGTCAGGCACAGAGGTCCTCCCGGGTCTG CTCTTGTCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCT CCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCA CAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTG CTCTTGTCCACAGAGGTCCTCCCGGGTCTGTT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346562	A A	AGGAGGAC others(203): Show AGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGA GAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACCTGGGAGGACCT CTGTGGCCGAGAGCGGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCC GGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGATCTCTGTGGCCGA GAACAGATCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	288	0.0035	210	c.466 others(227): Show c.466-1604_466-1603insCGGATCTGTTCTCGGCCACAGAGATCCT CCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGGCCA CAGAGGTCCTCCCGGGTCCGCTCTCGGCCACAGAGGTCCTCCCAGGTCTG CTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCT CCCGGGTCTGCTCTTGTCCACAGAGGTCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSDMD_chr8_143553346_143568062	143557294	G G	GCAAAGGA others(203): Show GCAAAGGATGCTGCCGCTTTGGCGAAGGATGCTGCCGCTATGGCGAAGGA TGATGCCGCTGTGACGACAGATGCTGCCGCTGTGACGACAGATGCTGCCG CTGTGGCGAAGGATGCTGCCGCTATGACGAAGGATGCTGCCGCTTTGGCG AAGGATGCTGCCGCTATGGCGAAGGATGCTGCCGCTTTGGCGAAGGATGC TGCCGCTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	417	0.0024	210	c.-11 others(221): Show c.-1162_-1161insCAAAGGATGCTGCCGCTTTGGCGAAGGATGCTGC CGCTATGGCGAAGGATGATGCCGCTGTGACGACAGATGCTGCCGCTGTGA CGACAGATGCTGCCGCTGTGGCGAAGGATGCTGCCGCTATGACGAAGGAT GCTGCCGCTTTGGCGAAGGATGCTGCCGCTATGGCGAAGGATGCTGCCGC TTTGGCGAAGGATGCTGCCGCTATGA	GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding		1051		chr8	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(203): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCCTCCTCCTCCTC CCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	290	0.0035	210	c.427 others(227): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCTCCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(203): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGT AATTAATTATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02280.hp1 others(9): Show HG00423.hp2 HG00558.hp2 HG02280.hp1 NA18945.hp2 NA18957.hp2 NA18971.hp1 NA18988.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19063.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0001 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0126 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0126 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0213 a0001c0001t0001g0245 a0001c0001t0009g0048 a0001c0001t0011g0162	12	398	0.0302	210	c.38- others(225): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTT ATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(203): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATAAATTTATAATTAATAATAACATGT AATTAATTATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	398	0.0025	210	c.38- others(225): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT AAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTT ATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(203): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTTATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGT AATTAATTATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	398	0.0025	210	c.38- others(225): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATAAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTT ATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(203): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTA ATTATAAATTTATAATTAATAATAACATGTAATTAATTATAAATTTATAA TTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGT AATTAATTATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	398	0.0025	210	c.38- others(225): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATAAATTTATAATTAAT TACATGTTATTATTAATTATAAATTTATAATTAATTACATGTTATTATTA ATTATTAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTT ATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(203): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AATAACATGTAATTAATTATAAATTTATAATTAATAATAACATGTAATTA ATTATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAA TTAATAATAACATGTAATTAATTATAAATTAATAATTAATAATAACATGT AATTAATTATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	398	0.0025	210	c.38- others(225): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTATTA ATTATAAATTTATAATTAATTACATGTTATTATTAATTATAAATTAATTT ATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
GZMM_chr19_539053_554922	550576	C C	CCCGAAAA others(203): Show CCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCC GTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCC AGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACA GGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTC ACCCCAGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	210	c.78 others(219): Show c.785_*786insCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCC CGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGT CCCCAGTCACCCCAGCACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAG CACCCCGAAAACAGGCCCGTCCCCAGTCACCCCAGCACCCCGAAAACAGG CCCGTCCCCAGTCACCCCAGCACT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		655		chr19	TogoVar
HDAC4_chr2_239043168_239406020	239231772	T T	TGTCCTCC others(203): Show TGTCCTCCCCGAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGC TCCCGGATGCCTGAGGTAGGTGTCCTCCCCGAAGCGCCCCTCTCCTCAAT CGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCC GAAGCGCCCCTGTCCTCAATCGAGGCTGCTGAGCGCCTGCTCCCGGATGC CTGAGGTAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	242	0.0041	210	c.94+ others(225): Show c.94+4820_94+4821insGCCTACCTCAGGCATCCGGGAGCAGGCGCT CAGCAGCCTCGATTGAGGACAGGGGCGCTTCGGGGAGGACGCCTACCTCA GGCATCCGGGAGCAGGTGCTCAGCAGCCTCGATTGAGGAGAGGGGCGCTT CGGGGAGGACACCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTC GATTGAGGAGAGGGGCGCTTCGGGGAGGAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HERC3_chr4_88587480_88713539	88699285	T T	TTCCCCAC others(203): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCC ACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCC CACCCTCTTCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03239.hp2 NA21309.hp2 HG01168.hp2 HG03239.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0008g0220 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0008g0220	3	296	0.0101	210	c.265 others(229): Show c.2658-4786_2658-4785insCACTCATCGACCCAGCTCCACCCTCT TCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCCCTAC CCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCTCTTCCTCCCCACCC ACCCACCCAGCCCCACCCTCTTCCTCCCCACCCACCCACCCAGCCCCACC CTCTTCCTCCCCACCCACCCACCCAGCCCCACCC	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(203): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18941.hp1 NA18970.hp2 others(2): Show HG01891.hp2 NA18941.hp1 NA18970.hp2 NA18992.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0002 a0001c0001t0012g0001 a0001c0001t0002g0002 a0001c0001t0012g0001	5	414	0.0121	210	c.-28 others(221): Show c.-2882_-2881insGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052857	T T	TGGGGTTA others(203): Show TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	414	0.0024	210	c.-24 others(221): Show c.-2402_-2401insGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2245		chr17	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(203): Show ATATATATAATATATATATATATATAATATATTATATATATTATATATAT ATTAATATATATATTATATATAAATATATATATAATATATATATTAATAT ATATATTATATATAATATATATATTATATATATAATATATATTAATATAT ATAATATATATAAATATATATATTATATATATAATATATATATTATATAT ATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	414	0.0024	210	c.57 others(221): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATTTATATATATTATATATATTAATATATATTATATAT ATAATATATATATTATATATAATATATATATTAATATATATATTATATAT ATATTTATATATAATATATATATTAATATATATATAATATATATAATATA TTATATATATATATATATTATATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4940		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132578478	T T	TCAGGAGA others(203): Show TCAGGAGAGTGTGCGGGGGCTGGAGGGGCTCTGTCAGGAGAGTGTGCGGG GAGTCTCATCCAGGAGAGTGTGCGGGGACTGGAGGGGCTCTGTCAGGAGA GTGTGCGGGGAGTCTCATCCAGGAGAGTGTGCGGGGACTGGAGGGGCTCT GTCAGGAGAGTGTGCGGGGGCTGGAGGGGCTCTGTCAGGAGAGTGTGCGG GGAGTCTCATC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	204	0.0049	210	c.76- others(227): Show c.76-29328_76-29327insAGTCTCATCCAGGAGAGTGTGCGGGGAC TGGAGGGGCTCTGTCAGGAGAGTGTGCGGGGGCTGGAGGGGCTCTGTCAG GAGAGTGTGCGGGGAGTCTCATCCAGGAGAGTGTGCGGGGGCTGGAGGGG CTCTGTCAGGAGAGTGTGCGGGGAGTCTCATCCAGGAGAGTGTGCGGGGA CTGGAGGGGCTCTGTCAGGAGAGTGTGCGGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IRF8_chr16_85894162_85927606	85914603	C C	CGAGGATG others(203): Show CGAGGATGAGCAGGACCTGGTGTGGAAGTCTAGGCCTGGTTCCAAGGATG AGCAGGACCTGGTGTGGAAGTCTAGGCTCCGTTCCGAGGATGAGCAGGAC CTGGTGTGGAAGTCTAGGCCTGGTTCTGAGGATGAGCAGGACCTGGTGTG GAAGTCGAGGCTCCGTTCCGAGGATGAGCAGGACCTCGTGTGGAAGTCTA GGCCCGGTTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG03540.hp1 others(1): Show HG02630.hp1 HG02809.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0005	a0001c0001t0004g0094 a0001c0001t0004g0156 a0001c0001t0004g0198 others(1): Show a0001c0001t0004g0094 a0001c0001t0004g0156 a0001c0001t0004g0198 a0001c0002t0005g0070	4	432	0.0093	210	c.601 others(225): Show c.601+113_601+322dupTAGGCCTGGTTCCAAGGATGAGCAGGACCT GGTGTGGAAGTCTAGGCTCCGTTCCGAGGATGAGCAGGACCTGGTGTGGA AGTCTAGGCCTGGTTCTGAGGATGAGCAGGACCTGGTGTGGAAGTCGAGG CTCCGTTCCGAGGATGAGCAGGACCTCGTGTGGAAGTCTAGGCCCGGTTC TGAGGATGAGCAGGACCTGGTGTGGAAGTC	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ISYNA1_chr19_18429388_18443133	18442182	C C	CCTAACAC others(203): Show CCTAACACATACCACACCCACACCACACACCCACACACACCACACCCACC CCAACACACACCACACAACCCACACTGCACACACCCAACACACCACCCCT CACACCACACACCACACACACCCACCACCAACACACACCACACCCACACC ACACATAAACCACACCCACACCCAACACACATACCACATCCACACATCCC AACACACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	308	0.0033	210	c.-41 others(221): Show c.-4100_-4099insTGTGGTGTGTTGGGATGTGTGGATGTGGTATGTG TGTTGGGTGTGGGTGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGG TGGTGGGTGTGTGTGGTGTGTGGTGTGAGGGGTGGTGTGTTGGGTGTGTG CAGTGTGGGTTGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTG TGTGGTGTGGGTGTGGTATGTGTTAG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4050		chr19	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(203): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTAATATAAATAAATATATATT TATTTATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0073 a0001c0001t0002g0074	2	338	0.0059	210	c.117 others(231): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATTAATAAATATATATTTATTTATATAAATAAATATATATTTATTT ATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTATT TATATATATTATAAATATATATTTATTATATATTAATAAATATATATTAT ATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(203): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATAATAAATAAATATATATT TATTTATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0326 a0001c0001t0007g0326	1	338	0.0030	210	c.117 others(231): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATTATAATAAATATATATTTATTTATATAAATAAATATATATTTATTT ATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTATT TATATATATTATAAATATATATTTATTATATATTAATAAATATATATTAT ATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(203): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATA TTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATAT TATTTATATAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03491.hp1 NA19091.hp2 HG02015.hp2 HG03491.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0041 a0001c0001t0047 a0001c0001t0009 a0001c0001t0041 a0001c0001t0047	a0001c0001t0009g0115 a0001c0001t0041g0039 a0001c0001t0047g0030 a0001c0001t0009g0115 a0001c0001t0041g0039 a0001c0001t0047g0030	3	338	0.0089	210	c.117 others(231): Show c.1170-15845_1170-15844insTTATATAAATAATATATATTTATT TATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATTT ATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTATT TATATATATTATAAATATATATTTATTATATATTAATAAATATATATTAT ATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(203): Show TATAAATATATATTTATTATATATATATATAATATATATAATATATATTT ATTAATATATAATAAATATATATTTATAATATATATAAATAAATATATAT TTATAATAAATAAATATAATATATATTTATTTATATAAATAAATATATAT TTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATATT TATTTATATAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0109 a0004c0015t0109	a0004c0015t0109g0295 a0004c0015t0109g0295	1	338	0.0030	210	c.117 others(231): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTATATTTATTTATTATAAATATATATTTATT TATATATATTATAAATATATATTTATTATATATTAATAAATATATATTAT ATATATTATATATATATATAATAAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAATAT others(203): Show TATAATATATATTTATTATATATATATATAATATATATAATATATATTTA TTAATATATAATAAATATATATTTATAATATATATAAATAAATATATATT TATAATAAATAAATATAAATATATATTTATTTATATAAATAAATATATAT TTATTTATATAAATAAATATATATTTATTATATATAAATAAATATATATT TATTTATATAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0328 a0001c0001t0007g0328	1	338	0.0030	210	c.117 others(231): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTATATATATATATAATAAATATATATTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124110027	G G	GATATATA others(203): Show GATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGA TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0052 a0007c0052	a0007c0052t0008 a0007c0052t0008	a0007c0052t0008g0075 a0007c0052t0008g0075	1	116	0.0086	210	c.73+ others(227): Show c.73+76322_73+76531dupGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCP_chr7_128871865_128915709	128899829	A A	ACCTTAAG others(203): Show ACCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGA ATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGAT TCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0021 a0021	a0021c0072 a0021c0072	a0021c0072t0002 a0021c0072t0002	a0021c0072t0002g0311 a0021c0072t0002g0311	1	372	0.0027	210	c.831 others(227): Show c.831+2947_831+2948insAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACAT GATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGA TTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGG	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	8/39			chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	62156852	T T	TTTGTATT others(203): Show TTTGTATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCG CGCCCGGCTAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0020 a0004c0010t0005g0020	1	244	0.0041	210	c.219 others(229): Show c.219+20332_219+20333insTTAGCCGGGCGCGGTGGCGGGTGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACAATACAA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	2/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429421	A A	AAGGGAGA others(203): Show AAGGGAGAAAGGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAG AGGAAAGAGGAGGGGAGGAGGAGGGAGAAAGGAGGAGGGAAGGAGGAGGA AGAAAGGAGGGGAGGAGGAGAGGAAAGAGGAGGGGAGGAGGAGGGAGAAA GGAGGAGGGAAGGAGGAGGAAGAAAGGAGGGGAGGAGGAGAGGAAAGAGG AGGGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03453.hp2 HG02922.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0005 a0001c0001t0019g0017 a0001c0001t0006g0005 a0001c0001t0019g0017	3	386	0.0078	210	c.-47 others(221): Show c.-4721_-4720insCCTCCTCCCCTCCTCTTTCCTCTCCTCCTCCCCT CCTTTCTTCCTCCTCCTTCCCTCCTCCTTTCTCCCTCCTCCTCCCCTCCT CTTTCCTCTCCTCCTCCCCTCCTTTCTTCCTCCTCCTTCCCTCCTCCTTT CTCCCTCCTCCTCCCCTCCTCTTTCCTCTCCTCCTCCCCTCCTTTCTTCC TCCTCCTTCCCTCCTCCTTTCTCCCT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4611		chr19	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(203): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCT CTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	308	0.0033	210	c.-25 others(229): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(203): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	308	0.0033	210	c.-25 others(229): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(203): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0054 a0001c0001t0025g0054	1	308	0.0033	210	c.-25 others(229): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(203): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03139.hp1 HG02071.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0243 a0001c0001t0025g0055 a0001c0001t0002g0243 a0001c0001t0025g0055	2	308	0.0065	210	c.-25 others(229): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar

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